背景:尤因肉瘤(ES)是一种侵袭性骨和软组织癌,其中大多数倾向于发生在骨骼中。子宫颈骨外尤因肉瘤(EES)极为罕见。
方法:在目前的工作中,我们报道了1例39岁的宫颈EES患者,肿瘤肿块2.5*2.1*1.8cm.根据以前的文献,我们的病例是有史以来在原发性宫颈ES中发现的最小肿瘤。病人最初是因为阴道出血来我们医院,然后妇科检查发现宫颈管和部分宫颈外孔之间有肿瘤。以下证实了EES的诊断:苏木精和伊红染色(H&E)显示活检标本中的小圆形蓝色恶性细胞。免疫组织化学(IHC)显示CD99、NKX2.2和FLI1的阳性染色。通过荧光原位杂交(FISH)发现EWSR1基因的破坏,并通过下一代测序(NGS)确定EWSR1-FLI1基因融合。患者接受腹腔镜广泛子宫切除术,双侧附件切除术,盆腔淋巴结清扫术,和术后辅助化疗,并保持无病定期随访1年。
结论:通过对先前报道的宫颈ES和该病例的系统评价,我们强调了FISH和NGS对ESS诊断准确性的重要性,这可以帮助优化治疗策略。然而,由于罕见的疾病,没有标准的治疗方案。宫颈ES的分子病理诊断和治疗方案的标准化对患者的预后至关重要。
BACKGROUND: Ewing\'s sarcoma (ES) is an aggressive cancer of bone and soft tissue, most of which tend to occur in the bone. Extraosseous Ewing\'s sarcoma (EES) of the cervix is extremely rare.
METHODS: In the present work, we reported a 39-year-old cervical EES patient with a 2.5*2.1*1.8 cm tumor mass. According to previous literatures, our
case is the smallest tumor found in primary cervical ES ever. The patient initially came to our hospital due to vaginal bleeding, and then the gynecological examination found a neoplasm between the cervical canal and partially in the external cervical orifice. The diagnosis of EES was confirmed below: Hematoxylin & Eosin staining (H&E) revealed small round blue malignant cells in biopsy specimens. Immunohistochemistry (IHC) showed the positive staining for CD99, NKX2.2, and FLI1. Disruption of EWSR1 gene was found by fluorescence in situ hybridization (FISH), and the EWSR1-FLI1 gene fusion was determined by next-generation sequencing (NGS). The patient received laparoscopic wide hysterectomy, bilateral adnexectomy, pelvic lymphadenectomy, and postoperative adjuvant chemotherapy and remained disease free with regular follow-up for 1 year.
CONCLUSIONS: Through a systematic review of previously reported cervical ES and this
case, we highlighted the importance of FISH and NGS for the accuracy of ESS diagnosis, which could assist on the optimal treatment strategy. However, due to the rarity of the disease, there is no standard treatment schemes. Investigation on molecular pathological diagnosis and standardization of treatment regimens for cervical ES are critical to patients\' prognosis.